GJB2 mutations: passage through Iran

Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.     

Case-management for Patients with Schizophrenia in Iran: A Comparative Study of the Clinical Outcomes of Mental Health Workers and Consumers’ Family Members as Case Managers

The objective of this study was to evaluate the effectiveness of case-management services and the feasibility of considering the Consumers’ Family Members (CFM) as service providers in Iran as a developing country. Three trained case-managers were allocated into each group (Mental Health Worker-MHW and CFM), providing 12 months of home-visit services for 129 individuals with schizophrenia. Burden, knowledge, quality of life and the general health condition of the caregivers, as well as positive/negative symptoms and social skills of the consumers were evaluated. Most clinical variables were improved without significant differences between groups. The hospitalization rate was reduced by 67%.     

Investigation of the chronic effects of NPY by subcutaneous implantation of 6-23 cells producing NPY in WAG rats

OBJECTIVE: In this experiment, we studied the chronic effects of NPY, as there were no data on long-term effects of NPY in vivo. METHODS: Complementary DNA encoding NPY was isolated, sequenced and cloned into the expression vector, pCEP4. The 6-23 clone 6 cell line was transfected with this clone. Two groups of 10 adult male WAG rats (180-250 g body weight) were injected with either untransfected 6-23 clone 6 or 6-23 clone 6 transfected with NPY cDNA [6-23 (NPY)]. After 8 weeks, the animals were killed, their plasma assayed for insulin. Pancreatic glucagon (PG), by RIA, and plasma glucose were measured. RESULTS: The transfected cells were shown to be producing fully processed, bioactive NPY. The expression of NPY was also confirmed by Northern blot analysis. The animals injected with 6-23 (NPY) cells gained significantly more weight than the controls, (on day 54, 31.89 +/- 3.56 vs. 24.1 +/- 4.12 g, n = 10, P < 0.05). Plasma insulin and PG increased significantly in NPY animals compared to controls. The total RNA extracted from tumours was analysed by Northern blotting and showed NPY mRNA expression in NPY animals, but not in controls. CONCLUSION: The long-term effects of NPY was confirmed by injection of the cells producing this peptide.     

Spontaneous regression and complete disappearance of the vein of Galen aneurysmal malformation

Introduction

Thrombosis is frequently observed in Galen malformation, but propagation of thrombosis resulting in the disappearance of the aneurysmal malformation is a very rare clinical condition.

Case report

A rare case of spontaneous regression and disappearance of the vein of Galen aneurysmal malformation (VoGAM) in a pediatric patient with repeated generalized seizure, increased head circumference, and congestive heart failure is recorded. The course of regression from infancy to 8 years of age has been depicted. Radiological studies initially demonstrated VoGAM complicated by an intra-cerebral hemorrhage and hydrocephalus, which later underwent spontaneous regression. Long-term clinical and radiological follow-up is presented.

Discussion

Different conditions including hemodynamic alteration, compression of adjacent hematoma, and narrowing of related vascular structures have been described to cause thrombosis of VoGAM. The relevant literature to address possible mechanism is reviewed.

     

Unintended pregnancies in Hamedan,Iran: Levels and determinants

The recent limitation in the provision of publicly funded family planning services in Iran has concerned stakeholders in reproductive health about the incidence of unintended pregnancies. This study used data from Hamedan Survey of Fertility (HSF), conducted in April–June 2015 among a representative sample of 3,000 married women aged 15–49 years living in the city of Hamedan (Iran), to estimate levels of unintended pregnancies and examine factors related to pregnancy intentions for the most recent birth, using multinomial logistic regression analyses. Results showed that 23 percent of pregnant women reported their pregnancy as unintended (17 percent mistimed and 6 percent unwanted). Moreover, unintended pregnancies in the five years preceding the survey were the result of failures of withdrawal (35 percent) and of modern contraceptive use (33 percent), along with contraceptive discontinuation (23 percent) and non-use (9 percent). Multivariate results indicated that the risk of unintended pregnancy was lower among women reporting modern contraceptive failures and lower among those reporting contraceptive discontinuation and non-use, compared with women experiencing withdrawal failures. The high incidence of unintended pregnancies among women experiencing contraceptive failures and discontinuation imply their high unmet need for contraceptive knowledge and counseling rather than for access to contraceptive methods.